Variant report

Variant	rs471334
Chromosome Location	chr11:66461776-66461777
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:66461740-66461890	GM12871	blood:	n/a	n/a
2	POLR2A	chr11:66461603-66461955	K562	blood:	n/a	n/a
3	CTCF	chr11:66461700-66461850	GM12870	blood:	n/a	n/a
4	POLR2A	chr11:66460961-66462845	SK-N-MC	brain:	n/a	n/a
5	RAD21	chr11:66461763-66462853	HCT-116	colon:	n/a	n/a
6	POLR2A	chr11:66461722-66461905	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:66461670-66461970	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66460828..66465487-chr11:66600237..66603918,6	MCF-7	breast:
2	chr11:66459650..66462162-chr11:66637854..66640560,2	K562	blood:
3	chr11:66246356..66248619-chr11:66459390..66462283,2	MCF-7	breast:
4	chr11:66383272..66385787-chr11:66459976..66461944,2	K562	blood:
5	chr11:66445411..66447055-chr11:66460652..66462568,2	K562	blood:
6	chr11:66458929..66464091-chr11:66593960..66597623,5	MCF-7	breast:
7	chr11:66459888..66463227-chr11:66510993..66515268,6	MCF-7	breast:
8	chr11:66457942..66460126-chr11:66460680..66462377,2	MCF-7	breast:
9	chr11:66461759..66462938-chr11:66600504..66602873,21	MCF-7	breast:
10	chr11:66459760..66463831-chr11:66485092..66488454,5	MCF-7	breast:
11	chr11:66461666..66462664-chr11:66601443..66602548,9	MCF-7	breast:
12	chr11:66460513..66462118-chr11:66605906..66607499,2	K562	blood:
13	chr11:66461004..66463732-chr11:66600353..66604002,4	K562	blood:
14	chr11:66457898..66462042-chr11:66587171..66589768,3	MCF-7	breast:
15	chr11:66460806..66462464-chr11:66623301..66625659,2	K562	blood:
16	chr11:66461624..66464570-chr11:66608193..66612218,4	MCF-7	breast:
17	chr11:66460082..66462513-chr11:66464945..66467965,4	MCF-7	breast:
18	chr11:66456720..66460597-chr11:66460674..66462508,4	MCF-7	breast:
19	chr11:66460804..66462830-chr11:66492985..66494653,2	MCF-7	breast:
20	chr11:66459547..66465432-chr11:66599355..66603296,9	MCF-7	breast:

No data

Variant related genes	Relation type
SPTBN2	TF binding region
ENSG00000173653	Chromatin interaction
ENSG00000255517	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000173621	Chromatin interaction
ENSG00000254986	Chromatin interaction
ENSG00000173715	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000173898	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11227604	1.00[LWK][hapmap]
rs11600012	1.00[CHD][hapmap];1.00[LWK][hapmap]
rs11820790	1.00[MEX][hapmap]
rs11820976	1.00[CHD][hapmap]
rs12290557	1.00[CEU][hapmap]
rs28471984	1.00[CHD][hapmap]
rs35235415	1.00[CHD][hapmap];1.00[LWK][hapmap]
rs3891724	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap]
rs7110020	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv518919	chr11:66409409-66468469	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv897790	chr11:66414915-66626234	Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv897791	chr11:66442855-66533469	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv427891	chr11:66456140-66606701	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66446200-66461800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr11:66446200-66465800	Weak transcription	A549	lung
3	chr11:66446200-66468000	Weak transcription	Lung	lung
4	chr11:66446200-66468600	Weak transcription	Right Ventricle	heart
5	chr11:66446200-66480200	Weak transcription	Fetal Kidney	kidney
6	chr11:66446200-66485800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:66446400-66462400	Weak transcription	Fetal Intestine Large	intestine
8	chr11:66446600-66461800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr11:66446800-66462200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:66450800-66467000	Strong transcription	Fetal Brain Female	brain
11	chr11:66451000-66462200	Strong transcription	Liver	Liver
12	chr11:66451000-66467000	Strong transcription	Brain Germinal Matrix	brain
13	chr11:66451200-66461800	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr11:66451200-66462200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:66451400-66462400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:66451600-66462000	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr11:66451800-66462000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:66451800-66462000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:66452200-66485600	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:66452400-66461800	Strong transcription	Hela-S3	cervix
21	chr11:66452600-66462000	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:66452800-66473800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr11:66453000-66483400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr11:66453400-66461800	Strong transcription	Pancreas	Pancrea
25	chr11:66454000-66461800	Weak transcription	Spleen	Spleen
26	chr11:66454000-66462000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:66454000-66462400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:66455000-66462400	Weak transcription	Thymus	Thymus
29	chr11:66455200-66461800	Weak transcription	NHEK	skin
30	chr11:66455200-66462000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:66455800-66461800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:66455800-66461800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:66455800-66462000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:66455800-66462000	Strong transcription	Brain Anterior Caudate	brain
35	chr11:66456200-66462000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:66456400-66461800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:66456400-66494600	Weak transcription	Right Atrium	heart
38	chr11:66457000-66462000	Strong transcription	Esophagus	oesophagus
39	chr11:66458600-66469200	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr11:66458800-66462000	Strong transcription	Fetal Intestine Small	intestine
41	chr11:66459000-66472200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr11:66459200-66462200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:66459200-66467000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr11:66459400-66462200	Weak transcription	Brain Substantia Nigra	brain
45	chr11:66459400-66465400	Weak transcription	Fetal Brain Male	brain
46	chr11:66459600-66465200	Weak transcription	Brain Hippocampus Middle	brain
47	chr11:66460000-66461800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:66460600-66463600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr11:66460800-66461800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr11:66460800-66467800	Weak transcription	Gastric	stomach

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